rs80356847
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is A;C: Likely to be a BRCA1 pathogenic mutation, but uncertainty remains
- Gene
- BRCA1
- Location
- Chr 1743,104,938 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon/normal
- A;CMost notableBadLikely to be a BRCA1 pathogenic mutation, but uncertainty remains
SNPedia records rs80356847 on the minus strand: (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other BRCA1 SNPs
- rs28897696T;Tcarrier of two copies of BRCA1 variant; likely to be at high risk for breast/ovarian cancerVery important
- rs41286296A;CBRCA1 pathogenic mutation associated with breast cancerVery important
- rs62625306A;CBRCA1 pathogenic mutation associated with breast cancerVery important
- rs62625307A;GBRCA1 pathogenic mutation associated with breast cancerVery important
- i6051899A;Clikely to be BRCA1 variant pathogenic for breast cancerVery important
- rs1800747C;TBRCA1 pathogenic mutation associated with breast cancerVery important
- rs28897672A;Tconsidered a pathogenic BRCA1 breast cancer variantVery important
- rs28897686A;CBRCA1 pathogenic mutation associated with breast cancerVery important
Notes
From SNPedia
Show notes, about 180 words
aka c.231G>T, a synonymous change in the BRCA1 gene; note also presence of other variants at this location, c.231G>A and c.231G>T In ClinVar, an expert panel has designated all three variants as likely to be benign. However, at least two separate sources have published data indicating that c.231G>T might be pathogenic. First, in 2011, a functional study concluded that c.231G>T was very likely to cause exon skipping in the BRCA1 gene, a known mechanism for pathogenic BRCA1 mutations. Second, interpretation by the QIAGEN Clinical Insight (QCI) software predicts c.231G>T is likely to be pathogenic; this is one of the very few discordancies between QCI's automated interpretations and existing ClinVar annotations for BRCA1/BRCA2 variants, according to a QIAGEN poster presented at the 2019 'Curating the Clinical Genome Meeting'.
A;C
See text; most sources indicate this is likely to be pathogenic BRCA1 mutation, but as the main rs-page discusses, in ClinVar it is currently annotated as either a variant of uncertain significance or as likely benign.
Source and license
Adapted from rs80356847 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.